ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
383 | 427 | |
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
294 | 339 | |
AADAT | - | - |
GRCh38 GRCh37 |
8 | 66 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
12 | 42 | |
ACSL1 | - | - |
GRCh38 GRCh37 |
42 | 154 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
52 | 129 | |
AGA | - | - |
GRCh38 GRCh37 |
525 | 625 | |
AGA-DT | - | - | - | GRCh38 | - | 49 |
ANAPC10 | - | - |
GRCh38 GRCh37 |
11 | 43 | |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 143 |
There are 1043 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 19, 2013 | RCV000143559.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024